Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001578581 | SCV001547822 | uncertain significance | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | research | Multiple lines of computational evidence suggest no impact on gene or gene product (BP4_supporting) |
Labcorp Genetics |
RCV001578581 | SCV003447679 | benign | Mucopolysaccharidosis, MPS-IV-A | 2024-01-29 | criteria provided, single submitter | clinical testing |